Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss

Maniglia, Luciano Pereira; Moreira, Bruna Carolina Lemos; Silva, Magali Aparecida Orate Menezes da; Piatto, Vânia Belintani; Maníglia, José Victor

doi:10.1016/s1808-8694(15)31384-7

Cited by 5 publications

(6 citation statements)

References 25 publications

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“…At present, little is known about the incidence of mtDNA mutations in Brazilian patients. Previously published data have mainly focused on the A1555G mutation [ 7 , 8 ] and there are no studies including a large number of deafness-associated mtDNA mutations.…”

Section: Introductionmentioning

confidence: 99%

Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

et al. 2016

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BackgroundMutations in the mitochondrial DNA (mtDNA) have been associated with aminoglycoside-induced and nonsyndromic deafness in different populations. In the present study, we investigated the contribution of mutations in mitochondrial genes to the etiology of hearing loss in a Brazilian sample.MethodsUsing mass spectrometry genotyping technology, combined with direct sequencing, 50 alterations previously described in 14 mitochondrial genes were screened in 152 patients with sensorineural hearing loss and in104 normal hearing controls.ResultsFifteen known mitochondrial alterations were detected (G709A, A735G, A827G, G988A, A1555G, T4363C, T5628C, T5655C, G5821A, C7462T, G8363A, T10454C, G12236A, T1291C, G15927A). Pathogenic mutations in MT-RNR1 and MT-TK genes were detected in 3 % (5/152) of the patients with hearing loss.ConclusionsThis study contributed to show the spectrum of mitochondrial variants in Brazilian patients with hearing loss. Frequency of A1555G was relatively high (2.6 %), indicating that this mutation is an important cause of hearing loss in our population. This work reports for the first time the investigation and the detection of the tRNALys G8363A mutation in Brazilian patients with maternally inherited sensorineural hearing loss.

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Section: Introductionmentioning

confidence: 99%

Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

et al. 2016

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“…In another study with 27 deaf participants, in Brazil, the A1555G was not found. [16] The majority of our patients had pre-lingual deafness; a characteristic found in the majority of the Brazilian studies. The clinical presentation of deafness in deafs and their relatives with the A1555G mutation varies according to severity, progression, and initial ages, according to Estivill and collaborators in 1998.…”

Section: Discussionmentioning

confidence: 78%

“…[17] This mutation was not found in either 712 hearing subjects in a trial carried out in Argentina,[18] or in a neonatal trial conducted in Brazil with 100 children. [16]…”

Section: Discussionmentioning

confidence: 99%

Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing

Salomão¹,

Ayo²,

Della-Rosa³

2013

Indian J Hum Genet

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BACKGROUND:Mutations of mitochondrial DNA were described into two genes: The mitochondrially encoded 12S RNA (MT-RNR1) and the mitochondrially encoded tRNA serineucn (MT-TS1). The A1555G mutation in MT-RNR1 gene is a frequent cause of deafness in different countries.AIM:The aim of this work was to investigate the frequency of the A1555G mutation in the MT-RNR1 gene in the mitochondrial DNA in Brazilians individuals with nonsyndromic deafness, and listeners.MATERIALS AND METHODS:DNA samples were submitted to polymerase chain reaction and to posterior digestion with the Hae III enzyme.RESULTS:Seventy eight (78) DNA samples of deaf individuals were analyzed; 75 showed normality in the region investigated, two samples (2.5%) showed the T1291C substitution, which is not related to the cause of deafness, and one sample (1.3%) showed the A1555G mutation. Among the 70 non-impaired individuals no A1555G mutation or T1291C substitution was found.CONCLUSION:We can affirm that A1555G mutation is not prevalent, or it must be very rare in normal-hearing subjects in the State of Paraná, the south region of Brazil. The A1555G mutation frequency (1.3%) found in individual with nonsyndromic deafness is similar to those found in other populations, with nonsyndromic deafness. Consequently, it should be examined in deafness diagnosis. The investigation of the A1555G mutation can contribute towards the determination of the nonsyndromic deafness etiology, hence, contributing to the correct genetic counseling process.

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“…Forty-two articles[ 3 6 7 9 10 11 12 13 16 17 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 ] (the others are as shown in Figure 2 ) addressed the prevalence/incidence of MT-RNR1 mutation in the populations with SNHL for which a range of 0% in Brazilian[ 30 ] and Argentine[ 32 ] subjects to 100% in 3 Spanish families[ 31 ] with aminoglycoside-induced hearing loss were presented. The modal prevalence was 3.2% and only A1555G and/or C1494T variants were assessed.…”

Section: Methodsmentioning

confidence: 99%

A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

Ibekwe¹,

Bhimrao²,

Westerberg³

et al. 2015

Afr J Paediatr Surg

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Background:This was a meta-analysis and systematic review to determine the global prevalence of the mitochondrially encoded 12S RNA (MT-RNR1) genetic mutation in order to assess the need for neonatal screening prior to aminoglycoside therapy.Materials and Methods:A comprehensive search of MEDLINE, EMBASE, Ovid, Database of Abstracts of Reviews of Effect, Cochrane Library, Clinical Evidence and Cochrane Central Register of Trials was performed including cross-referencing independently by 2 assessors. Selections were restricted to human studies in English. Meta-analysis was done with MetaXL 2013.Results:Forty-five papers out of 295 met the criteria. Pooled prevalence in the general population for MT-RNR1 gene mutations (A1555G, C1494T, A7445G) was 2% (1–4%) at 99%.Conclusion:Routine screening for MT-RNR1 mutations in the general population prior to treatment with aminoglycosides appear desirable but poorly supported by the weak level of evidence available in the literature. Routine screening in high-risk (Chinese and Spanish) populations appear justified.

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Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss

Cited by 5 publications

References 25 publications

Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing

A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

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